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This is depicting an adult Trisomy 13 patient which is very rare because most will pass away as a newborn as it is a harsh disease.

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There are no specific treatments for Trisomy 13 as treatments may vary from child to child, but there is currently no cure.

https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/trisomy-13

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Trisomy 13 is a chromosomal disorder caused by an extra chromosome 13 that results in severe intellectual disability and physical abnormalities.

Trisomy 13 caused by an extra copy of chromosome 13.

Infants are small and have severe brain, eye, facial, and heart defects.

Several tests can be done before or after birth to confirm the diagnosis.

There is no treatment available for trisomy 13.

Chromosomes are structures within cells that contain DNA and many genes. A gene is a segment of deoxyribonucleic acid (DNA) and contains the code for a specific protein that functions in one or more types of cells in the body (see Genes and Chromosomes for a discussion about genetics). Genes contain instructions that determine how the body is supposed to function.

An extra chromosome, making three of a kind, is called trisomy. Children who have trisomy 13 have a third chromosome 13. Trisomy 13 occurs in about 1 out of 10,000 live births. The extra chromosome usually comes from the mother. Mothers who are over age 35 are at increased risk of having a child with trisomy 13.

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Trisomy 13 - Children's Health Issues - Merck Manuals Consumer Version

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Trisomy 13 is a chromosomal disorder caused by an extra chromosome 13 that results in severe intellectual disability and physical abnormalities. Trisomy 13 caused by an extra copy of chromosome 13. Infants are small and have severe brain, eye, facial, and heart defects. Several tests can be done before or after birth to confirm the diagnosis.

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Fewer than 50,000 people in the U.S have Trisomy 13.

https://rarediseases.info.nih.gov/diseases/7341/trisomy-13/

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View Sources & References

The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.

Reference: Access aggregated data from Orphanet at Orphadata. Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997.

Reference: Download data from HPO. Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207-D1217.

Data from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease. Data from the National Library of Medicine's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing. Content References:
National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press.

U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience.

Last Updated: February 2023

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View Sources & References The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.

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Thomas Collins is doing research on prolonging the lives of many trisomy, including Patau's Syndrome. He has been performing heart surgery on babies. So far, heart surgery has doubled the longevity of the child. He does say that even allowing the baby to live till its 2nd birthday is considered a win.

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It was once unusual for children with Down syndrome to have surgery to repair heart defects that are associated with the disorder. "Back in 1975, folks would've said there's nothing we can do to help those babies. But now people have proven if you do heart surgery early, patients with Down syndrome can live to adulthood and be active members of their community. The difference it makes for them is tremendous," says Stanford pediatric cardiologist Thomas Collins, MD.

Collins believes new research might also change attitudes about performing surgery for others who, like Down syndrome babies, are born with a third copy of a chromosome - in this case, babies with trisomy 13 or trisomy 18.

In a recent study published in Pediatrics, Collins and colleagues from the University of Arkansas for Medical Sciences showed that heart surgery can more than double the life spans of babies with trisomy 13, also called Patau syndrome, or trisomy 18, also called Edwards syndrome.

Birth defects and disabilities are far more severe in Patau and Edwards syndrome babies than they are in Down syndrome babies, who can live for many decades. Many Patau and Edwards syndrome babies die within hours or days of birth and most don't live past a year old.

Their heart conditions are often treated with standard medical care - blood pressure medication, ventilators and intravenous fluids. Surgery is rarely an option. "The thought has been it doesn't make sense to undertake a major heart surgery if the patient's death within a few months is a near certainty," Collins says.

Extending the lives of these babies means they still might not live past the age of 2, but even that improvement gives parents more time with their children and more options for care, Collins points out. It also gives specialists more time to develop treatments for other health issues, such as breathing difficulties.

For their study, researchers used data on nearly 1,600 trisomy 13 and 18 patients from 44 children's hospitals across the United States between 2004 and 2015. They found that heart surgery increased survival and hospital discharge on average from 33 percent to about 67 percent and that the benefit lasted through two years of follow-up, Collins says.

"Especially for trisomy 18, the number of babies that survive more than doubles after surgery," he says.

Most infants in the study were admitted at less than a day old, and 51 percent of infants in the study who had congenital heart defects died in the hospital or were discharged to hospice.

Collins says he hopes the research will change how doctors approach treating Patau and Edwards syndrome babies once heart issues are addressed. He says he plans to study more than 3,000 trisomy 13 and 18 patients to determine how their collective health problems fit together, with a goal toward creating a guideline for treatment priorities.

"Surgery gives parents the option to say, 'We're going to do everything we can for our baby,'" Collins says. "And, now we've shown that heart surgeries could allow parents to take their babies home from the hospital, and have them for two years or beyond, as opposed to two weeks."

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Heart surgery could help babies with trisomy 13 and trisomy 18 live longer

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It was once unusual for children with Down syndrome to have surgery to repair heart defects that are associated with the disorder. "Back in 1975, folks would've said there's nothing we can do to help those babies. But now people have proven if you do heart surgery early, patients with Down syndrome can live to adulthood and be active members of their community.

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Trisomy 13 is when an extra chromosome appears on the 13th set.

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Trisomy 13 is when an extra chromosome appears on the 13th set.

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Some of the symptoms of Trisomy 13 are extra fingers and toes, cleft, small features, and eyes fused shut. The severity of these symptoms causes most children to die in the first year.

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Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation).

Extra digits may be present as an isolated finding, or they may occur as part of a syndrome, in which case other abnormalities are usually present.

Causes

Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.

Trisomy 13: the presence of an extra (third) chromosome 13 in all of the cells.

Mosaic trisomy 13: the presence of an extra chromosome 13 in some of the cells.

Partial trisomy 13: the presence of a part of an extra chromosome 13 in the cells.

The extra material interferes with normal development.

Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus.

Exams and Tests

The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease, such as:

Gastrointestinal x-rays or ultrasound may show rotation of the internal organs.

MRI or CT scans of the head may reveal a problem with the structure of the brain. The problem is called holoprosencephaly. It is the joining together of the 2 sides of the brain.

Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy. Rarely, the extra material may be attached to another chromosome (translocation).

Treatment

There is no specific treatment for trisomy 13. Treatment varies from child to child and depends on the specific symptoms.

Support Groups

Support groups for trisomy 13 include:

Support Organization for Trisomy 18, 13 and Related Disorders (SOFT): trisomy.org

Hope for Trisomy 13 and 18: www.hopefortrisomy13and18.org

Outlook (Prognosis)

More than 90% of children with trisomy 13 die in the first year.

Possible Complications

Complications begin almost immediately. Most infants with trisomy 13 have congenital heart disease.

Complications may include:

Breathing difficulty or lack of breathing (apnea)

When to Contact a Medical Professional

Contact your health care provider if you have had a child with trisomy 13 and you plan to have another child. Genetic counseling can help families understand the condition, the risk of inheriting it, and how to care for the person.

Prevention

Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells.

Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.

Bacino CA,Lee B. Cytogenetics. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC,Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia,PA: Elsevier; 2020:chap 98.

Madan-KhetarpalS, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: ZitelliBJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas ofPediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap1.

Version Info

Last reviewed on: 7/30/2021

Reviewed by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation).

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Patau's Syndrome is inherited through a mutation in the mother's eggs or father's sperm. Patau's Syndrome does not affect the parents of the child with the Syndrome because it is a mutation in the parent's sex cells.

# data[].attributes.attachment_link.readable_text
Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation).

Extra digits may be present as an isolated finding, or they may occur as part of a syndrome, in which case other abnormalities are usually present.

Causes

Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.

Trisomy 13: the presence of an extra (third) chromosome 13 in all of the cells.

Mosaic trisomy 13: the presence of an extra chromosome 13 in some of the cells.

Partial trisomy 13: the presence of a part of an extra chromosome 13 in the cells.

The extra material interferes with normal development.

Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus.

Exams and Tests

The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease, such as:

Gastrointestinal x-rays or ultrasound may show rotation of the internal organs.

MRI or CT scans of the head may reveal a problem with the structure of the brain. The problem is called holoprosencephaly. It is the joining together of the 2 sides of the brain.

Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy. Rarely, the extra material may be attached to another chromosome (translocation).

Treatment

There is no specific treatment for trisomy 13. Treatment varies from child to child and depends on the specific symptoms.

Support Groups

Support groups for trisomy 13 include:

Support Organization for Trisomy 18, 13 and Related Disorders (SOFT): trisomy.org

Hope for Trisomy 13 and 18: www.hopefortrisomy13and18.org

Outlook (Prognosis)

More than 90% of children with trisomy 13 die in the first year.

Possible Complications

Complications begin almost immediately. Most infants with trisomy 13 have congenital heart disease.

Complications may include:

Breathing difficulty or lack of breathing (apnea)

When to Contact a Medical Professional

Contact your health care provider if you have had a child with trisomy 13 and you plan to have another child. Genetic counseling can help families understand the condition, the risk of inheriting it, and how to care for the person.

Prevention

Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells.

Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.

Bacino CA,Lee B. Cytogenetics. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC,Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia,PA: Elsevier; 2020:chap 98.

Madan-KhetarpalS, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: ZitelliBJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas ofPediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap1.

Version Info

Last reviewed on: 7/30/2021

Reviewed by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation).

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This picture shows some of the symptoms of Trisomy 13

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Hope For Trisomy is a nonprofit created in honor of all children with Trisomy, as well as other related conditions they now go by "HOPE FOR TRISOMY" to better showcase its wider range of illnesses.
https://www.hopefortrisomy13and18.org/